Details of Disease | DrugMAP

General Information of Disease (ID: DISCNRNR)

Disease Name	Benign recurrent intrahepatic cholestasis type 2
Synonyms	benign recurrent intrahepatic cholestasis 2; mild ABCB11 deficiency; cholestasis, benign recurrent intrahepatic, 2; recurrent familial intrahepatic cholestasis 2; cholestasis, benign recurrent intrahepatic 2; cholestasis, benign recurrent intrahepatic, type 2; BRIC2; Bric type 2
Disease Hierarchy	DIS7BFN7: Benign recurrent intrahepatic cholestasis DISCNRNR: Benign recurrent intrahepatic cholestasis type 2
Disease Identifiers	MONDO ID MONDO_0011559 MESH ID C535934 UMLS CUI C2608083 OMIM ID 605479 MedGen ID 435857 Orphanet ID 99961

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCB11	TTUXCAF	Limited	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCB11	DTJ0EW4	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCB11	OTRU7THO	Strong	Autosomal recessive	[2]
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References

1	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
2	Targeted inactivation of sister of P-glycoprotein gene (spgp) in mice results in nonprogressive but persistent intrahepatic cholestasis. Proc Natl Acad Sci U S A. 2001 Feb 13;98(4):2011-6. doi: 10.1073/pnas.98.4.2011. Epub 2001 Feb 6.